This page is dedicated to the Graves Disease research study, one of 57 studies supported by the Boston Children’s Rare Disease Collaborative (CRDC) and the Jeff and Kimberly Barber Fund for Graves Disease Research. For more information about the CRDC, please visit our home page. Established in 2018, the CRDC supports pediatric rare disease research and provides families with genetic diagnoses that enable personalized treatments, including precision medicine and targeted therapies.

Initiated at Boston Children’s Hospital in 2021, the Graves Disease research study, led by Drs. Janet Chou and Jessica Smith, has established a registry of more than 185 children with Graves disease and enrolled 45 patients and their families. The study focuses on finding the genetic cause of Graves disease and researching protein profiles to provide personalized medicine.

Disease information

Graves disease is an immune system disorder where the thyroid gland is overactive (hyperthyroidism), leading to production of too many thyroid hormones. These hormones affect many bodily functions like metabolism and cardiac, gastrointestinal, and reproductive function, resulting in a wide variety of symptoms. Children with Graves disease often don't respond to treatment (refractory Graves disease) as well as adults. They may need several years of treatment before they get better or decide on a more permanent solution.

The genetic basis of Graves disease is unclear but likely involves a combination of genetic and external causes. Learn more about Graves disease at Boston Children’s and from trusted information sites below.

Key outcomes

  • To date, 25% of patients have received diagnostic results, leading to a change in treatment plans.
  • While most patients do not have a monogenic cause for their Graves disease, the research team found von Willebrand factor as a marker for refractory Graves disease. Because this marker is available as a clinical test, these research findings were applied in clinical practice for patients with severe Graves disease.
  • From this collaboration, the team is also identifying patients with Trisomy 21 and refractory Graves disease as candidates for treatment with low-dose sirolimus.

Participate in research

Physicians may refer their patients with Graves disease to Drs. Chou and Smith. After confirming study eligibility, a research coordinator will contact the family to consent for enrollment. To learn more about their research, visit Dr. Chou’s research profile and Dr. Smith’s publications.

Patient care

A specialized multidisciplinary team in the Thyroid Center at Boston Children’s Hospital cares for patients with Graves disease. In her interview on YouTube, Dr. Smith discusses the rewarding experience of treating patients at the Thyroid Center.

Patient stories

'A 100 percent difference’: Treatment for Graves’ disease helps Emily enjoy college

Investigators

Divisions

Programs

Immunology Program

Notable publications by investigators

  1. Okawa EA, Grant FA, Smith JR. "Pediatric Graves' Disease: Decisions Regarding Therapy." Curr Opin, Pediatr. 2015 Aug;27(4):442-7.
  2. Keefe G, Culbreath K, Cherella CE, Smith JR, Zendejas B, Shamberger RC, Richman DM, Hollowell ML, Modi BP, Wassner AJ. Autoimmune thyroiditis and risk of malignancy in children with thyroid nodules. Thyroid. 2022;32(9):1109-1117. PMID: 35950619
  3. Smith JR, Wassner AJ. Thyrotoxicosis. In: Kliegman RM, St. Geme III JW, Blum NJ, et al, editors. Nelson Textbook of Pediatrics, 22nd Ed. Elsevier; 2023.
  4. Cherella CE, Smith JR, Huang SA. Autoimmune Thyroid Disease. In: Radovick S, MacGilivray MH, editors. Pediatric Endocrinology: A Practical Clinical Guide, 3rd Edition. Humana Press; 2023.
  5. Wassner AW, Smith JR. Advances in Pediatric Graves Disease. Review, Thyroid, 2025. (pending)

Disease support organizations

Graves Disease and Thyroid Foundation

Graves Disease & Thyroid Foundation is a nonprofit organization that provides support and educational services for patients and family members affected by Graves disease, thyroid eye disease, Hashimoto's thyroiditis, and other thyroid-related disorders. Services are delivered via phone, email, U.S. Mail, social media, online forums, local support groups, and national educational events.

American Thyroid Association

The American Thyroid Association® (ATA) is the professional home for clinicians and researchers dedicated to thyroid health, including children and adults with autoimmune thyroid disease.

Trusted sites